ISSUES SURROUNDING PRENATAL GENETIC TESTING FOR ACHONDROPLASIA

软骨发育不全产前基因检测的相关问题

• 批准号: 6162577
• 负责人: C A FRANCOMANO
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6162577
• 关键词: achondroplasia; behavioral /social science research tag; belief; clinical research; family planning; genetic counseling; genetic disorder diagnosis; health behavior; health education; human subject; induced abortion; interview; population survey; prenatal diagnosis; psychological values

Since researchers identified the gene mutation responsible for achondroplasia in 1994, a prenatal test for acholdroplasia has become available. Before it is widely available, it is essential that we learn more about the lives of affected persons and their families as well as the education and counseling needs of these communities. After conducting a pilot telephone interview survey of 15 individuals, we developed a new survey instrument for a large scale quantitative cross-sectional study of the communities of little people and their parents. The tool assesses a number of psychological parameters as well as reproductive and family plans and attitudes toward genetic testing and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members. In the past year, we have received approval for the study from the Medical Advisory Board of the Little People of America, and initiated a contract through Westat for distribution of the survey and data analysis. Surveys will be sent to LPA members and patients in skeletal dysplasia clinics.

由于研究人员确定了负责的基因突变 1994年的adnondroplasia，对Acholdroploplasia的产前测试已成为 可用的。在广泛使用之前，我们必须学习 有关受影响的人及其家人的生活以及 这些社区的教育和咨询需求。进行后 对15个人的试点电话采访调查，我们开发了一个新的 大规模定量横截面研究的调查工具 小人和他们父母的社区。工具评估 许多心理参数以及生殖和家庭 对基因检测和流产的计划和态度。这 自我管理调查将由一个样本在全国范围内完成 患有Achondroplasia及其家人的人。在过去的一年中 我们已获得医疗顾问委员会的研究的批准 美国的小民族，并通过Westat签订了合同 用于分发调查和数据分析。调查将发送 在骨骼发育不良诊所中的LPA成员和患者。